ClinVar Miner

Submissions for variant NC_000016.10:g.(?_68787043)_(68833499_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001031252 SCV001194558 uncertain significance Hereditary diffuse gastric adenocarcinoma 2019-10-13 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 3-16 of the CDH1 gene. The 5' boundary is likely confined to intron 2. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. Duplications of exons 3-16 have not been reported in the literature in individuals with CDH1-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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